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1.
Zhongguo Dang Dai Er Ke Za Zhi ; 26(3): 236-243, 2024 Mar 15.
Artigo em Chinês | MEDLINE | ID: mdl-38557374

RESUMO

OBJECTIVES: To explore the changes in gut microbiota and levels of short-chain fatty acids (SCFA) in infants with cow's milk protein allergy (CMPA), and to clarify their role in CMPA. METHODS: A total of 25 infants diagnosed with CMPA at Children's Hospital Affiliated to Zhengzhou University from August 2019 to August 2020 were enrolled as the CMPA group, and 25 healthy infants were selected as the control group. Fecal samples (200 mg) were collected from both groups and subjected to 16S rDNA high-throughput sequencing technology and liquid chromatography-mass spectrometry to analyze the changes in gut microbial composition and metabolites. Microbial diversity was analyzed in conjunction with metabolites. RESULTS: Compared to the control group, the CMPA group showed altered gut microbial structure and significantly increased α-diversity (P<0.001). The abundance of Firmicutes, Clostridiales and Bacteroidetes was significantly decreased, while the abundance of Sphingomonadaceae, Clostridiaceae_1 and Mycoplasmataceae was significantly increased in the CMPA group compared to the control group (P<0.001). Metabolomic analysis revealed reduced levels of acetic acid, butyric acid, and isovaleric acid in the CMPA group compared to the control group, and the levels of the metabolites were positively correlated with the abundance of SCFA-producing bacteria such as Faecalibacterium and Roseburia (P<0.05). CONCLUSIONS: CMPA infants have alterations in gut microbial structure, increased microbial diversity, and decreased levels of SCFA, which may contribute to increased intestinal inflammation.


Assuntos
Microbioma Gastrointestinal , Hipersensibilidade a Leite , Lactente , Criança , Feminino , Animais , Bovinos , Humanos , Hipersensibilidade a Leite/diagnóstico , Ácidos Graxos Voláteis , Bactérias/genética , Ácido Butírico , Proteínas do Leite
2.
Zhongguo Dang Dai Er Ke Za Zhi ; 26(2): 139-144, 2024 Feb 15.
Artigo em Chinês | MEDLINE | ID: mdl-38436310

RESUMO

OBJECTIVES: To explore the clinical manifestations, endoscopic findings, histopathological changes, treatment, and prognosis of eosinophilic gastrointestinal disease (EGID) in children, with the aim of enhancing awareness among pediatricians about this condition. METHODS: Data of 267 children with EGID were prospectively collected from January 2019 to July 2022 at Jiangxi Children's Hospital, Hunan Children's Hospital, and Henan Children's Hospital. The age of onset, symptoms, physical signs, laboratory examination results, endoscopic findings, histopathological changes, and treatment outcomes were observed. RESULTS: Among the 267 children with EGID, the majority had mild (164 cases, 61.4%) or moderate (96 cases, 35.6%) clinical severity. The disease occurred at any age, with a higher prevalence observed in school-age children (178 cases). The main symptoms in infants were vomiting and hematemesis, while in toddlers, vomiting and bloody stools were prominent. Abdominal pain and vomiting were the primary symptoms in preschool and school-age children. Nearly half (49.4%) of the affected children showed elevated platelet counts on hematological examination, but there was no significant difference in platelet counts among children with mild, moderate, and severe EGID (P>0.05). Endoscopic findings in EGID children did not reveal significant specificity, and histopathological examination showed no specific structural damage. Among them, 85.0% (227 cases) received acid suppression therapy, 34.5% (92 cases) practiced dietary avoidance, 20.9% (56 cases) received anti-allergic medication, and a small proportion (24 cases, 9.0%) were treated with prednisone. Clinical symptoms were relieved in all patients after treatment, but three cases with peptic ulcers experienced recurrence after drug discontinuation. CONCLUSIONS: Mild and moderate EGID are more common in children, with no specific endoscopic findings. Dietary avoidance, acid suppression therapy, and anti-allergic medication are the main treatment methods. The prognosis of EGID is generally favorable in children.


Assuntos
Antialérgicos , Enterite , Eosinofilia , Gastrite , Lactente , Pré-Escolar , Humanos , Eosinofilia/diagnóstico , Eosinofilia/tratamento farmacológico , Vômito
3.
Zhongguo Dang Dai Er Ke Za Zhi ; 26(1): 48-53, 2024 Jan 15.
Artigo em Chinês | MEDLINE | ID: mdl-38269459

RESUMO

OBJECTIVES: To investigate the clinical characteristics and risk factors of delayed bleeding after intestinal polypectomy in children, and to provide a theoretical basis for clinical surgical intervention of intestinal polyps. METHODS: A retrospective analysis was conducted on the clinical data of 2 456 children with intestinal polyps who underwent endoscopic high-frequency electrocoagulation loop resection in the Endoscopy Center of Children's Hospital Affiliated to Zhengzhou University from January 2014 to December 2021. According to the presence or absence of delayed bleeding after surgery, they were divided into bleeding group with 79 children and non-bleeding group with 2 377 children. A multivariate logistic regression analysis was used to investigate the risk factors for delayed bleeding. The receiver operating characteristic (ROC) curve was used to investigate the value of various indicators in predicting delayed bleeding. RESULTS: Of all 2 456 children, 79 (3.22%) experienced delayed bleeding, among whom 5 children with severe delayed bleeding underwent emergency colonoscopy for hemostasis and 74 received conservative treatment, and successful hemostasis was achieved for all children. There were significant differences between the bleeding and non-bleeding groups in age, body mass index, constipation rate, location of lesion, time of endoscopic procedure, resection method (P<0.05). Children with a diameter of polyps of 6-10 mm and >20 mm were more likely to develop delayed bleeding after resection (P<0.05). The multivariate logistic regression analysis showed that endoscopic operation time, polyp diameter, and resection method were significantly associated with delayed bleeding (P<0.05). The ROC curve analysis showed that the endoscopic operation time, polyp diameter, and resection method had a good value in predicting delayed bleeding after intestinal polypectomy, with an area under the ROC curve of 0.706, 0.688, and 0.627, respectively. CONCLUSIONS: Endoscopic high-frequency electrocoagulation loop resection has a lower incidence of delayed bleeding in children with intestinal polyps, and the endoscopic operation time, polyp diameter, and resection method are closely associated with the occurrence of postoperative delayed bleeding.


Assuntos
Hemorragia , Intestinos , Criança , Humanos , Estudos Retrospectivos , Pólipos Intestinais/cirurgia , Fatores de Risco
4.
BMC Biol ; 21(1): 303, 2023 12 21.
Artigo em Inglês | MEDLINE | ID: mdl-38129834

RESUMO

BACKGROUND: Identifying the key factors that underlie complex traits during domestication is a great challenge for evolutionary and biological studies. In addition to the protein-coding region differences caused by variants, a large number of variants are located in the noncoding regions containing multiple types of regulatory elements. However, the roles of accumulated variants in gene regulatory elements during duck domestication and economic trait improvement are poorly understood. RESULTS: We constructed a genomics, transcriptomics, and epigenomics map of the duck genome and assessed the evolutionary forces that have been in play across the whole genome during domestication. In total, 304 (42.94%) gene promoters have been specifically selected in Pekin duck among all selected genes. Joint multi-omics analysis reveals that 218 genes (72.01%) with selected promoters are located in open and active chromatin, and 267 genes (87.83%) with selected promoters were highly and differentially expressed in domestic trait-related tissues. One important candidate gene ELOVL3, with a strong signature of differentiation on the core promoter region, is known to regulate fatty acid elongation. Functional experiments showed that the nearly fixed variants in the top selected ELOVL3 promoter in Pekin duck decreased binding ability with HLF and increased gene expression, with the overexpression of ELOVL3 able to increase lipid deposition and unsaturated fatty acid enrichment. CONCLUSIONS: This study presents genome resequencing, RNA-Seq, Hi-C, and ATAC-Seq data of mallard and Pekin duck, showing that selection of the gene promoter region plays an important role in gene expression and phenotypic changes during domestication and highlights that the variants of the ELOVL3 promoter may have multiple effects on fat and long-chain fatty acid content in ducks.


Assuntos
Domesticação , Patos , Animais , Patos/genética , Patos/metabolismo , Herança Multifatorial , Regiões Promotoras Genéticas , Ácidos Graxos/metabolismo
5.
World J Gastrointest Endosc ; 15(9): 564-573, 2023 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-37744321

RESUMO

BACKGROUND: We invented Endoscopic Ruler, a new endoscopic device to measure the size of varices in patients with cirrhosis and portal hypertension. AIM: To assess the feasibility and safety of Endoscopic Ruler, and evaluate the agreement on identifying large oesophageal varices (OV) between Endoscopic Ruler and the endoscopists, as well as the interobserver agreement on diagnosing large OV using Endoscopic Ruler. METHODS: We prospectively and consecutively enrolled patients with cirrhosis from 11 hospitals, all of whom got esophagogastroduodenoscopy (EGD) with Endoscopic Ruler. The primary study outcome was a successful measurement of the size of varices using Endoscopic Ruler. The secondary outcomes included adverse events, operation time, the agreement of identifying large OV between the objective measurement of Endoscopic Ruler and the empirical reading of endoscopists, together with the interobserver agreement on diagnosing large OV by Endoscopic Ruler. RESULTS: From November 2020 to April 2022, a total of 120 eligible patients with cirrhosis were recruited and all of them underwent EGD examinations with Endoscopic Ruler successfully without any adverse event. The median operation time of Endoscopic Ruler was 3.00 min [interquartile range (IQR): 3.00 min]. The kappa value between Endoscopic Ruler and the endoscopists while detecting large OV was 0.52, demonstrating a moderate agreement. The kappa value for diagnosing large OV using Endoscopic Ruler among the six independent observers was 0.77, demonstrating a substantial agreement. CONCLUSION: The data demonstrates that Endoscopic Ruler is feasible and safe for measuring the size of varices in patients with cirrhosis and portal hypertension. Endoscopic Ruler is potential to promote the clinical practice of the two-grade classification system of OV.

6.
Aquac Nutr ; 2023: 8325440, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37664404

RESUMO

This study investigated the dietary effects of lipid and protein levels on growth performance, feed utilization, body composition, lipid metabolism, and antioxidant capacity of triploid rainbow trout, Oncorhynchus mykiss. A 3 × 2 two-factor design was conducted with three crude lipid levels of 4%, 9%, and 14% (L4, L9, and L14) and two crude protein levels of 44%, 49% (P44, P49). Therefore, a total of six diets were prepared as P44/L4, P44/L9, P44/L14, P49/L4, P49/L9, and P49/L14. Triploid rainbow trout (initial body weight 65.0 ± 0.1 g) were fed one of the six diets for 80 days. The results showed that weight gain (WG), protein retention (PR), and protein efficiency rate (PER) significantly increased with increasing the dietary lipid level at the same crude protein level, while feed conversion ratio (FCR) and hepatosomatic index significantly decreased (P < 0.05). At the same lipid level, there was no difference in WG, FCR, PR, PER between 44% and 49% crude protein group (P > 0.05). The P49/L14 group had the highest WG (374.6%) and lowest FCR (1.25), while P44/L14 group had the highest PER (1.80) and PR (25.06%) with similar WG and FCR to P49/L14 group. The crude lipid contents in whole fish were significantly higher in the L14 group than those in the L4 and L9 groups (P < 0.05). Muscle n-3 PUFAs, n-6 PUFAs, and PUFAs levels were positively correlated with dietary lipid level, while n-6 PUFAs was negatively correlated with dietary protein level. Dietary protein, dietary lipid, and their interaction significantly affected hepatic malondialdehyde (MDA) content, aspartate aminotransferase, lipase (LPS), and fatty acid synthase (FAS) activities (P < 0.05). In both P44 and P49 groups, LPS and FAS activities increased with increasing the dietary lipid level. MDA content significantly decreased in the P44 group and increased in the P49 group with increasing the dietary lipid level (P < 0.05). As dietary protein level increased, serum total cholesterol level increased, while hepatic phosphoenolpyruvate carboxykinase activity decreased. With increasing the dietary lipid level, total superoxide dismutase, catalase, total nitric oxide synthase, and fructose-1,6-bisphosphatase activities showed an increasing trend, while the opposite was true for alanine aminotransferase activity. In conclusion, based on growth performance and feed utilization, dietary protein level of 44% and dietary lipid level of 14% (measured value, 43.71% and 13.62%) were suggested for young triploid rainbow trout.

7.
Curr Med Sci ; 43(3): 514-519, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37115399

RESUMO

OBJECTIVE: Delayed graft function (DGF) and early graft loss of renal grafts are determined by the quality of the kidneys from the deceased donor. As "non-traditional" risk factors, serum biomarkers of donors, such as lipids and electrolytes, have drawn increasing attention due to their effects on the postoperative outcomes of renal grafts. This study aimed to examine the value of these serum biomarkers for prediction of renal graft function. METHODS: The present study consecutively collected 306 patients who underwent their first single kidney transplantation (KT) from adult deceased donors in our center from January 1, 2018 to December 31, 2019. The correlation between postoperative outcomes [DGF and abnormal serum creatinine (SCr) after 6 and 12 months] and risk factors of donors, including gender, age, body mass index (BMI), past histories, serum lipid biomarkers [cholesterol, triglyceride, high-density lipoprotein (HDL) and low-density lipoprotein (DL)], and serum electrolytes (calcium and sodium) were analyzed and evaluated. RESULTS: (1) Donor age and pre-existing hypertension were significantly correlated with the incidence rate of DGF and high SCr level (≥2 mg/dL) at 6 and 12 months after KT (P<0.05); (2) The donor's BMI was significantly correlated with the incidence rate of DGF after KT (P<0.05); (3) For serum lipids, merely the low level of serum HDL of the donor was correlated with the reduced incidence rate of high SCr level at 12 months after KT [P<0.05, OR (95% CI): 0.425 (0.202-0.97)]; (4) The serum calcium of the donor was associated with the reduced incidence rate of high SCr level at 6 and 12 months after KT [P<0.05, OR (95% CI): 0.184 (0.045-0.747) and P<0.05, OR (95% CI): 0.114 (0.014-0.948), respectively]. CONCLUSION: The serum HDL and calcium of the donor may serve as predictive factors for the postoperative outcomes of renal grafts after KT, in addition to the donor's age, BMI and pre-existing hypertension.


Assuntos
Hipertensão , Transplante de Rim , Adulto , Humanos , Transplante de Rim/efeitos adversos , Estudos Retrospectivos , Cálcio , Função Retardada do Enxerto/epidemiologia , Função Retardada do Enxerto/etiologia , Hipertensão/complicações , Biomarcadores , Cálcio da Dieta , Lipídeos
8.
World J Pediatr ; 19(10): 939-948, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37022658

RESUMO

BACKGROUND: Good quality of care for inflammatory bowel disease (IBD) depends on high-standard management and facility in the IBD center. Yet, there are no clear measures or criteria for evaluating pediatric IBD (PIBD) center in China. The aim of this study was to develop a comprehensive set of quality indicators (QIs) for evaluating PIBD center in China. METHODS: A modified Delphi consensus-based approach was used to identify a set of QIs of structure, process, and outcomes for defining the criteria. The process included an exhaustive search using complementary approaches to identify potential QIs, and two web-based voting rounds to select the QIs defining the criteria for PIBD center. RESULTS: A total of 101 QIs (35 structures, 48 processes and 18 outcomes) were included in this consensus. Structure QIs focused on the composition of multidisciplinary team, facilities and services that PIBD center should provide. Process QIs highlight core requirements in diagnosing, evaluating, treating PIBD, and disease follow-up. Outcome QIs mainly included criteria evaluating effectiveness of various interventions in PIBD centers. CONCLUSION: The present Delphi consensus developed a set of main QIs that may be useful for managing a PIBD center. Video Abstract.


Assuntos
Doenças Inflamatórias Intestinais , Humanos , Criança , Consenso , Doenças Inflamatórias Intestinais/diagnóstico , Doenças Inflamatórias Intestinais/terapia , China
9.
Cancer Sci ; 114(3): 793-805, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36369883

RESUMO

Sorafenib is one a first-line therapeutic drugs for advanced hepatocellular carcinoma (HCC). However, only 30% of patients benefit from sorafenib due to drug resistance. We and other groups have revealed that nuclear factor I B (NFIB) regulates liver regeneration and carcinogenesis, but its role in drug resistance is poorly known. We found that NFIB was more upregulated in sorafenib-resistant SMMC-7721 cells compared to parental cells. NFIB knockdown not only sensitized drug-resistant cells to sorafenib but also inhibited the proliferation and invasion of these cells. Meanwhile, NFIB promoted the proliferation and invasion of HCC cells in vitro and facilitated tumor growth and metastasis in vivo. Knocking down NFIB synergetically inhibited tumor growth with sorafenib. Mechanically, gene expression profiling and subsequent verification experiments proved that NFIB could bind with the promoter region of a complex I inhibitor NDUFA4L2 and promote its transcription. Transcriptional upregulation of NDUFA4L2 by NFIB could thus inhibit the sorafenib-induced reactive oxygen species accumulation. Finally, we found that NFIB was highly expressed in HCC tissues, and high NFIB expression level was associated with macrovascular invasion, advanced tumor stage, and poor prognosis of HCC patients (n = 156). In summary, we demonstrated that NFIB could transcriptionally upregulate NDUFA4L2 to enhance both intrinsic and acquired sorafenib resistance of HCC cells by reducing reactive oxygen species induction.


Assuntos
Antineoplásicos , Carcinoma Hepatocelular , Neoplasias Hepáticas , Humanos , Antineoplásicos/farmacologia , Carcinoma Hepatocelular/patologia , Linhagem Celular Tumoral , Proliferação de Células , Resistencia a Medicamentos Antineoplásicos/genética , Regulação Neoplásica da Expressão Gênica , Neoplasias Hepáticas/patologia , Fatores de Transcrição NFI/genética , Espécies Reativas de Oxigênio/metabolismo , Sorafenibe/farmacologia
10.
Front Mol Biosci ; 9: 875324, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35655758

RESUMO

Nuclear Factor I B (NFIB) has been reported to promote tumor growth, metastasis, and liver regeneration, but its mechanism in liver cancer is not fully elucidated. The present study aims to reveal the role of NFIB in hepatocellular carcinogenesis. In our study, we constructed hepatocyte-specific NFIB gene knockout mice with CRISPR/Cas9 technology (Nfib-/-; Alb-cre), and induced liver cancer mouse model by intraperitoneal injection of DEN/CCl4. First, we found that Nfib-/- mice developed more tumor nodules and had heavier livers than wild-type mice. H&E staining indicated that the liver histological severity of Nfib-/- group was more serious than that of WT group. Then we found that the differentially expressed genes in the tumor tissue between Nfib-/- mice and wild type mice were enriched in urea cycle. Furthermore, ASS1 and CPS1, the core enzymes of the urea cycle, were significantly upregulated in Nfib-/- tumors. Subsequently, we validated that the expression of ASS1 and CPS1 increased after knockdown of NFIB by lentivirus in normal hepatocytes and also promoted cell proliferation in vitro. In addition, ChIP assay confirmed that NFIB can bind with promoter region of both ASS1 and CPS1 gene. Our study reveals for the first time that hepatocyte-specific knock-out of Nfib aggravates hepatocellular tumor development by enhancing the urea cycle.

11.
Zhongguo Dang Dai Er Ke Za Zhi ; 24(4): 377-381, 2022 Apr 15.
Artigo em Chinês | MEDLINE | ID: mdl-35527411

RESUMO

OBJECTIVES: To study the clinical efficacy, advantages, and disadvantages of adaptive biofeedback training combined with oral administration of compound polyethylene glycol 4000-electrolyte powder in the treatment of children with outlet obstruction constipation (OOC). METHODS: A total of 168 children with OOC were enrolled in this prospective study. All the subjects were randomly divided into a test group and a control group based on the order of visiting time, 84 in each group. The test group was treated with adaptive biofeedback training combined with oral administration of compound polyethylene glycol 4000-electrolyte powder, and the control group was treated with oral administration of compound polyethylene glycol 4000-electrolyte powder alone. Eleven children in the test group and two children in the control group withdrew from the study since they could not finish the whole treatment course. Finally, 73 children in the test group and 82 children in the control group were included in this analysis. As clinical outcomes, the total score of clinical symptoms and overall response rate were compared between the two groups at weeks 4 and 8 of treatment. RESULTS: There was no significant difference in the total score of clinical symptoms between the two groups at beginning of treatment and at week 4 (P>0.05), while the test group had a significantly lower total score of clinical symptoms than the control group at week 8 (P<0.05). At week 4, there was no significant difference in overall response rate between the two groups (P>0.05), while the test group had a significantly higher overall response rate than the control group at week 8 (P<0.05). CONCLUSIONS: Adaptive biofeedback training combined with oral administration of compound polyethylene glycol 4000-electrolyte powder is significantly associated with improvement of clinical outcomes in the treatment of children with OOC.


Assuntos
Constipação Intestinal , Polietilenoglicóis , Administração Oral , Biorretroalimentação Psicológica , Criança , Constipação Intestinal/complicações , Constipação Intestinal/tratamento farmacológico , Eletrólitos/uso terapêutico , Humanos , Polietilenoglicóis/uso terapêutico , Pós/uso terapêutico , Estudos Prospectivos , Resultado do Tratamento
12.
Esophagus ; 19(2): 269-277, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34642835

RESUMO

BACKGROUND: CT is the most commonly used method to stage esophageal cancer (EC). However, the reported CT T-staging criteria for EC are controversial. PURPOSE: To determine and validate the optimal esophageal wall thickness (EWT) threshold on CT to distinguish lesions with different T stages in esophageal squamous cell carcinoma (ESCC) patients. METHODS: One thousand, one hundred-two consecutive patients with histopathologically confirmed ESCC between July 2014 and April 2020 were retrospectively reviewed. All patients underwent a preoperative CT examination and surgical treatment. The maximal EWT of the lesions on CT was measured. Patients were divided into pT1, pT2, pT3 and pT4 subgroups according to the pathologic stage. We employed the support vector machine, where linear kernels were leveraged to determine the optimal threshold to classify samples with different T stages. 90% of samples from each subgroup were randomly selected as the training set, while the remainder comprised the testing set. RESULTS: The mean EWTs of the pT1, pT2, pT3 and pT4 subgroups were 4.9 ± 2.6 mm, 8.1 ± 2.3 mm, 12.4 ± 3.6 mm, and 18.6 ± 4.4 mm, respectively. Differences in the EWT between the four subgroups or between adjacent subgroups were significant (p < 0.001), and esophageal wall became thicker with increasing pT stage. We utilized MATLAB 2020a to implement the SVM model and ran the code 10 times. The accuracy of the model was 60.29 ± 2.33%. The thresholds between samples from pT1/pT2, pT2/pT3 and pT3/pT4 lesions were 5.5 ± 0.3 mm, 10.8 ± 0.8 mm and 15.9 ± 0.5 mm, respectively. CONCLUSIONS: Possibility of predicting T stage of ESCC by EWT on CT scans was limited to 60% by model examination with large sample size.


Assuntos
Neoplasias Esofágicas , Carcinoma de Células Escamosas do Esôfago , Neoplasias Esofágicas/patologia , Carcinoma de Células Escamosas do Esôfago/diagnóstico por imagem , Carcinoma de Células Escamosas do Esôfago/patologia , Humanos , Estadiamento de Neoplasias , Estudos Retrospectivos , Tomografia Computadorizada por Raios X
13.
Appl Math ; 36(4): 512-520, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34955618

RESUMO

In this paper, we investigate the CUSUM statistic of change point under the negatively associated (NA) sequences. By establishing the consistency estimators for mean and covariance functions respectively, the limit distribution of the CUSUM statistic is proved to be a standard Brownian bridge, which extends the results obtained under the case of an independent normal sample and the moving average processes. Finally, the finite sample properties of the CUSUM statistic are given to show the efficiency of the method by simulation studies and an application on a real data analysis.

15.
BMC Med Genomics ; 14(1): 277, 2021 11 22.
Artigo em Inglês | MEDLINE | ID: mdl-34809627

RESUMO

Mutations in the Forkhead Box C1 (FOXC1) are known to cause autosomal dominant hereditary Axenfeld-Rieger syndrome, which is a genetic disorder characterized by ocular and systemic features including glaucoma, variable dental defects, craniofacial dysmorphism and hearing loss. Due to late-onset of ocular disorders and lack of typical presentation, clinical diagnosis presents a huge challenge. In this study, we described a pathogenic in-frame variant in FOXC1 in one 5-year-old boy who is presented with hypertelorism, pupil deformation in both eyes, conductive hearing loss, and dental defects. By whole exome sequencing, we identified a 3 bp deletion in FOXC1, c.516_518delGCG (p.Arg173del) as the disease-causing variant, which was de novo and not detected in the parents, and could be classified as a "pathogenic variant" according to the American College of Medical Genetics and Genomics guidelines. After confirmation of this FOXC1 variant, clinical data on Axenfeld-Rieger syndrome-associated clinical features were collected and analyzed. Furthermore, Although the affected individual present hearing loss, however, the hearing loss is conductive and is reversible during the follow-up, which might not linke to the FOXC1 variant and is coincidental. Routine examination of FOXC1 is necessary for the genetic diagnosis of hypertelorism-associated syndrome. These findings may assist clinicians in reaching correct clinical and molecular diagnoses, and providing appropriate genetic counseling.


Assuntos
Anormalidades do Olho , Oftalmopatias Hereditárias , Segmento Anterior do Olho/anormalidades , Pré-Escolar , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Oftalmopatias Hereditárias/genética , Fatores de Transcrição Forkhead/genética , Humanos , Masculino
16.
Nat Commun ; 12(1): 5932, 2021 10 11.
Artigo em Inglês | MEDLINE | ID: mdl-34635656

RESUMO

Domestic ducks are raised for meat, eggs and feather down, and almost all varieties are descended from the Mallard (Anas platyrhynchos). Here, we report chromosome-level high-quality genome assemblies for meat and laying duck breeds, and the Mallard. Our new genomic databases contain annotations for thousands of new protein-coding genes and recover a major percentage of the presumed "missing genes" in birds. We obtain the entire genomic sequences for the C-type lectin (CTL) family members that regulate eggshell biomineralization. Our population and comparative genomics analyses provide more than 36 million sequence variants between duck populations. Furthermore, a mutant cell line allows confirmation of the predicted anti-adipogenic function of NR2F2 in the duck, and uncovered mutations specific to Pekin duck that potentially affect adipose deposition. Our study provides insights into avian evolution and the genetics of oviparity, and will be a rich resource for the future genetic improvement of commercial traits in the duck.


Assuntos
Adipogenia/genética , Proteínas Aviárias/genética , Fator II de Transcrição COUP/genética , Patos/genética , Genoma , Lectinas Tipo C/genética , Tecido Adiposo/citologia , Tecido Adiposo/metabolismo , Animais , Proteínas Aviárias/classificação , Proteínas Aviárias/metabolismo , Cruzamento , Fator II de Transcrição COUP/metabolismo , Domesticação , Casca de Ovo/metabolismo , Feminino , Perfilação da Expressão Gênica , Regulação da Expressão Gênica , Ontologia Genética , Lectinas Tipo C/metabolismo , Metabolismo dos Lipídeos/genética , Masculino , Anotação de Sequência Molecular , Mutação , Zigoto/metabolismo
17.
BMC Cardiovasc Disord ; 21(1): 334, 2021 07 07.
Artigo em Inglês | MEDLINE | ID: mdl-34233618

RESUMO

BACKGROUND: Previous studies have validated the capability of SYNTAX score (SS) and clinical SYNTAX score (CSS) in the prediction of clinical outcomes in patients who have undergone PCI; however, studies on comparison of these two scoring systems in Chinese population have been sparse. METHODS: To study the ability of SS and CSS in prediction of clinical outcomes of Chinese patients underwent percutaneous coronary intervention (PCI). We retrospectively calculated SS and CSS for 547 Chinese patients from a single center who underwent PCI. Patients were stratified into tertiles according to their SS and CSS. We compared the 2-year clinical outcomes in these patients stratified separately by SS and CSS tertiles. RESULTS: The incidence of major adverse cardiac and cerebro-vascular events (MACCE) was the highest in patients with SSHIGH (13.5%), comparing to 6.8% in SSMED and 0% in SSLOW (p < 0.0001). The Cox multivariable analysis showed that the SS and CSS were both strong independent predictors for MACCE [1.100 (1.069-1.133), 1.017 (1.010-1.025), both p < 0.0001]. The receiver operating characteristic (ROC) curves showed the areas-under-the-curves for all-cause death by CSS was slightly larger comparing to SS but not significantly (AUC SS, 0.64; AUC CSS, 0.71; p = 0.23). CONCLUSION: We concluded that both the SS and CSS were capable of risk stratification of clinical outcomes in all-comers population as well as in low and moderate risk Chinese patients undergoing PCI with CSS showing slightly better advantage.


Assuntos
Síndrome Coronariana Aguda/terapia , Angiografia Coronária , Doença da Artéria Coronariana/terapia , Técnicas de Apoio para a Decisão , Intervenção Coronária Percutânea , Síndrome Coronariana Aguda/diagnóstico por imagem , Síndrome Coronariana Aguda/mortalidade , Idoso , China , Doença da Artéria Coronariana/diagnóstico por imagem , Doença da Artéria Coronariana/mortalidade , Stents Farmacológicos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Intervenção Coronária Percutânea/efeitos adversos , Intervenção Coronária Percutânea/instrumentação , Intervenção Coronária Percutânea/mortalidade , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento
18.
Cell Oncol (Dordr) ; 44(1): 135-150, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32936421

RESUMO

PURPOSE: Paclitaxel is an anticancer drug for the treatment of non-small cell lung cancer (NSCLC). However, drug-resistance remains a major problem. Honokiol is a natural component which has been found to exhibit anti-tumor activity. Paclitaxel and honokiol have been reported to be able to induce paraptosis. The aim of this study was to investigate whether honokiol can reverse paclitaxel resistance by inducing paraptosis in NSCLC cells. METHODS: NSCLC cell lines H1650 (paclitaxel-sensitive), H1299 and H1650/PTX (intrinsic and acquired paclitaxel-resistant, respectively) were used to assess the cytotoxic effects of paclitaxel and honokiol. Light and transmission electron microscopy were performed to detect cytoplasmic vacuolation. In vitro cell viability and clonogenic survival assays, as well as in vivo xenograft assays were conducted to test synergistic killing effects of paclitaxel and honokiol on NSCLC cells. Western blotting, flow cytometry and immunofluorescence were performed to evaluate paraptosis-regulating mechanisms. RESULTS: We found that combination treatment with paclitaxel and honokiol synergistically killed H1650, H1299 and H1650/PTX cells by inducing paraptosis, which is characterized by cytoplasmic vacuolation. Moreover, paclitaxel/honokiol treatment resulted in a significant growth delay in H1299 xenograft tumors that showed extensive cytoplasmic vacuolation. Mechanistically, proteasomal inhibition-mediated endoplasmic reticulum (ER) stress and unfolded protein responses leading to ER dilation, and the disruption of intracellular Ca2+ homeostasis and mitochondrial Ca2+ overload resulting in mitochondrial disfunction, were found to be involved in paclitaxel/honokiol-induced paraptosis. Cellular protein light chain 3 (LC3) may play an important role in paclitaxel/honokiol induced cytoplasmic vacuolation and NSCLC cell death. CONCLUSIONS: Combination of honokiol and paclitaxel may represent a novel strategy for the treatment of paclitaxel-resistant NSCLC.


Assuntos
Apoptose , Compostos de Bifenilo/farmacologia , Carcinoma Pulmonar de Células não Pequenas/patologia , Lignanas/farmacologia , Neoplasias Pulmonares/patologia , Paclitaxel/farmacologia , Animais , Apoptose/efeitos dos fármacos , Cálcio/metabolismo , Carcinoma Pulmonar de Células não Pequenas/ultraestrutura , Linhagem Celular Tumoral , Sinergismo Farmacológico , Estresse do Retículo Endoplasmático/efeitos dos fármacos , Humanos , Neoplasias Pulmonares/ultraestrutura , Masculino , Camundongos Endogâmicos BALB C , Camundongos Nus , Proteínas Associadas aos Microtúbulos/metabolismo , Mitocôndrias/efeitos dos fármacos , Mitocôndrias/metabolismo , Complexo de Endopeptidases do Proteassoma/metabolismo , Enzimas Ativadoras de Ubiquitina/metabolismo , Vacúolos/efeitos dos fármacos , Vacúolos/metabolismo
19.
Sleep Breath ; 25(2): 829-834, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33128178

RESUMO

OBJECTIVE: To explore the effect of minimally invasive surgical treatment on the sleep quality and work ability of patients with obstructive sleep apnea-hypopnea syndrome (OSAHS). METHODS: Fifty-one patients who underwent minimally invasive surgery in the Sleep Respiratory Disease Diagnostic and Treatment Center of the West China Fourth Hospital of Sichuan University from January 2017 to January 2019 were selected as study subjects. All subjects completed polysomnography monitoring (PSG), an Epworth sleepiness scale (ESS), and a work ability index (WAI) before and 1 year after the minimally invasive surgery so that the changes could be compared. RESULTS: (1) The apnea-hypopnea index (AHI), microarousal index (MAI), ESS, longest duration of apnea, and longest duration of hypoventilation in OSAHS patients decreased, while the lowest blood oxygen saturation (LsaO2) increased after minimally invasive surgery. The differences were statistically significant (p < 0.05). (2) The WAI questionnaire score increased from (37.76 ± 4.46) to (40.00 ± 4.53) after minimally invasive surgery (P < 0.05). (3) The change in the WAI questionnaire score after minimally invasive surgery was influenced by the occupational category and the change in ESS. CONCLUSION: Minimally invasive surgical treatment shows significant benefit in improving the sleep quality and working ability of patients with OSAHS.


Assuntos
Procedimentos Cirúrgicos Minimamente Invasivos , Apneia Obstrutiva do Sono/cirurgia , Qualidade do Sono , Avaliação da Capacidade de Trabalho , Adulto , China , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polissonografia , Inquéritos e Questionários , Resultado do Tratamento , Adulto Jovem
20.
Mitochondrial DNA B Resour ; 5(1): 729-730, 2020 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-33366723

RESUMO

Knema elegans is a member of Myristicaceae. The K. elegans chloroplast genome is found to be 155,691 bp in length and has a base composition of A (30.02%), G (19.31%), C (19.89%), and T (30.78%). The genome contained two short inverted repeat (IRa and IRb) regions (48,122 bp) which were separated by a large single-copy (LSC) region (86,883 bp) and a small single-copy (SSC) region (20,686 bp). The chloroplast genome has 85 protein-coding genes, 27 transfer RNA (tRNA) genes, and 8 ribosomal RNA (rRNA) genes. Further, complete chloroplast sequence of K. elegans was aligned together with two species of Myristicaceae and five basal angiosperms species for which the complete chloroplast sequence have been reported. This complete chloroplast genome will provide valuable information for the development of DNA markers for future species resource development and phylogenetic analysis of K. elegans.

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